Reading Time: 2 minutes Just like when we put out our recycling every week, the cells in our body have their own recycling system too. One of the recycling plants within our motor neurones works by a system called autophagy. In a recently completed research project that the MND Association has funded Dr Rob Layfield and Dr Alice Goode…
Reading Time: 4 minutes Janine Kirby is a Non-Clinical Reader in Neurogenetics and is celebrating 20 years in motor neurone disease (MND) research this month. Here she tells us more about how she got into the field, her current projects, what it’s like to work at Sheffield Institute for Translational Neuroscience (SITraN) and to meet families affected by MND.…
Reading Time: 2 minutes Continuing the ‘gene hunting theme’ on from our last blog post on Project MinE, a recently published study has shed more light on the C9orf72 gene mutation. The C9orf72 gene mutation is the most common cause of the rare inherited form of MND (about 40% of all people with inherited MND have this mutation). Some…
Reading Time: 3 minutes Project MinE is an international genetics project that is analysing DNA from people with MND in detail. For the majority of people with MND, the disease appears ‘sporadically’ for no apparent reason. For a small number of people, approximately 5-10% of those with MND there is an inherited link, in other words the disease runs in…
Reading Time: 4 minutes A huge ‘atlas’ mapping the locations of motor neurone disease (MND) causing mutations within the genetic code has been collated. This has followed years of genetic analysis and sequencing of the DNA of people with MND, and their family members. The people who have given their time and DNA have played a hugely important part…
Reading Time: 2 minutes Published on 19 February 2015 in the Journal Science, an international team of scientists have found mutations in the gene TBK1 as a contributory risk factor in MND. Identifying TBK1 An international team, led by scientists at Columbia University in New York, have identified a new MND susceptibility gene – TBK1. The researchers used whole genome sequencing to sequence…
Reading Time: 5 minutes From Sunday morning to Tuesday evening last week, there was a lot of talk of MND research going on in Liverpool. The reason for this ‘hotspot’ of discussions was due to the annual meeting of an international consortium of MND researchers taking place at the University of Liverpool. The 10th International Consortium on SOD1 and…
Reading Time: 3 minutes It’s taken a huge international collaboration, including 3 MND Association-funded scientists, to discover a genetic mistake that appears to cause almost 40% of cases of familial (inherited) MND – that’s nearly twice as many as are caused by mutations in the SOD1 gene and more than three times as many as are caused by TDP-43 and…
Reading Time: < 1 minute Research published today in Neuron has identified that mistakes in a gene called VCP can cause an inherited (familial) form of MND. This is the third gene this year that has been identified as a cause of familial MND which really shows the ‘snowballing’ speed that genetic research is taking. Read about this on our press release: http://bit.ly/dXcjE4 Research paper: Johnson…
Reading Time: 3 minutes It’s Friday afternoon and I’m just back from a press briefing in London, where we were unveiling an exciting new stem cell research programme. I’ve just realised that we’ve put a press embargo on until Monday, so this won’t be posted until Monday morning – otherwise I’ll be breaking our own embargo….. The press briefing…
